Variant report

Variant	rs12777391
Chromosome Location	chr8:52709918-52709919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10908961	0.82[ASN][1000 genomes]
rs10908962	0.84[ASN][1000 genomes]
rs10908964	0.84[ASN][1000 genomes]
rs10908965	0.84[ASN][1000 genomes]
rs10908966	0.84[ASN][1000 genomes]
rs10908967	0.82[ASN][1000 genomes]
rs10908980	0.80[ASN][1000 genomes]
rs11528793	0.82[ASN][1000 genomes]
rs12775714	0.84[ASN][1000 genomes]
rs1589588	0.80[ASN][1000 genomes]
rs1603831	0.81[ASN][1000 genomes]
rs1608194	0.80[ASN][1000 genomes]
rs1818808	0.80[ASN][1000 genomes]
rs1846408	0.81[ASN][1000 genomes]
rs1851485	0.82[ASN][1000 genomes]
rs1851486	0.81[ASN][1000 genomes]
rs1851487	0.81[ASN][1000 genomes]
rs2334905	0.80[ASN][1000 genomes]
rs2335056	0.81[ASN][1000 genomes]
rs9663767	0.81[ASN][1000 genomes]
rs9663778	0.80[ASN][1000 genomes]
rs9664628	0.82[ASN][1000 genomes]
rs9664992	0.81[ASN][1000 genomes]
rs9665476	0.81[ASN][1000 genomes]
rs9794218	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1023825	chr8:52668824-52716137	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12777391	LOC283027	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52704200-52712600	Weak transcription	Left Ventricle	heart
2	chr8:52705800-52716000	Weak transcription	Right Ventricle	heart
3	chr8:52708600-52721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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